Evidence map›Paper›PMID 35260109›Full record

ArticleBMC neurology2022

Familial multiple sclerosis in patients with Von Hippel-Lindau disease.

Samir R Nath, Prabhjot Grewal, Thomas Cho, Yang Mao-Draayer

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 46% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Samir R NathMedical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.
Prabhjot GrewalDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Thomas ChoDepartment of Neurology, Clinical Autoimmunity Center of Excellence, University of Michigan Medical School, 4015 A. Alfred Taubman Biomedical Sciences Research Building 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Yang Mao-DraayerDepartment of Neurology, Clinical Autoimmunity Center of Excellence, University of Michigan Medical School, 4015 A. Alfred Taubman Biomedical Sciences Research Building 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. maodraay@umich.edu.
A. Alfred Taubman Health Care Center · USNorthwestern University · USUniversity of Michigan–Ann Arbor · US

Funding

MICHIGAN MEDICAL SCIENTIST TRAINING PROGRAMT32GM007863 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COLLINS, KATHLEEN L. · 1985 to 2024
$38.3M
University of Michigan Clinical Autoimmunity Center of ExcellenceUM1AI144298 · NIAID · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI FOX, DAVID ALAN, KHANNA, DINESH · 2019 to 2023
$546k
University of Michigan Autoimmunity Center of Excellence, Clinical Research ProgrUM1AI110557 · NIAID · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI FOX, DAVID ALAN · 2014 to 2018
$543k
National Institute of Allergy and Infectious Diseases UM1-AI110557-05National Institute of Allergy and Infectious Diseases UM1-AI144298-01NIAID NIH HHS UM1 AI110557NIAID NIH HHS UM1 AI144298NIGMS NIH HHS T32 GM007863NIH HHS GM007863
6 · The paper itself

Abstract

backgroundMultiple sclerosis (MS) is a progressive autoimmune demyelinating disorder. Recent studies suggest that a combination of genetic susceptibility and environmental insult contributes to its pathogenesis. Many candidate genes have been discovered to modulate susceptibility for developing MS by genome wide association studies (GWAS); these include major histocompatibility complex (MHC) genes and non-MHC genes. MS cases in the context of genetic diseases may provide different approaches and clues towards identifying novel genes and pathways involved in MS pathogenesis. Here, we present a case series of two related patients with concomitant Von Hippel-Lindau disease (VHLD) and MS. CASE PRESENTATION: We present two patients, a mother (case 1) and daughter (case 2), who developed superimposed relapsing-remitting multiple sclerosis in the background of the autosomal dominant genetic disorder VHLD. Several tumors characteristic of VHLD developed in both cases with pancreatic and renal neoplasms and cerebellar hemangioblastomas. In addition, both patients developed clinical symptoms consistent with multiple sclerosis, supported by radiologic lesions disseminating in time and space.

conclusionThough non-MHC susceptibility genes remain elusive in MS, we present the striking finding of superimposed multiple sclerosis in a mother and daughter with VHLD. The VHL gene is known to be the primary regulator of Nrf2, the well-established target of the FDA-approved therapeutic dimethyl fumarate. These cases provide support for further studies to determine whether VHLD pathway related genes represent a novel genetic link in multiple sclerosis.

Indexed as

HemangioblastomaMultiple Sclerosisvon Hippel-Lindau DiseaseFemaleGenome-Wide Association StudyHumansVon Hippel-Lindau Tumor Suppressor ProteinVon Hippel-Lindau Tumor Suppressor ProteinCase reportMultiple sclerosisVon Hippel Lindau

Identifiers

PMID35260109
PMCPMC8902760
OpenAlexW4221039634

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.